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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 17-42201800-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=42201800&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 42201800,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012448.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "NM_012448.4",
"protein_id": "NP_036580.2",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293328.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012448.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000293328.8",
"protein_id": "ENSP00000293328.3",
"transcript_support_level": 1,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012448.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293328.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2401C>T",
"hgvs_p": "p.Arg801Cys",
"transcript": "ENST00000951702.1",
"protein_id": "ENSP00000621761.1",
"transcript_support_level": null,
"aa_start": 801,
"aa_end": null,
"aa_length": 820,
"cds_start": 2401,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951702.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000415845.2",
"protein_id": "ENSP00000398379.2",
"transcript_support_level": 4,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415845.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000698776.1",
"protein_id": "ENSP00000513923.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698776.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000698777.1",
"protein_id": "ENSP00000513924.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698777.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000903577.1",
"protein_id": "ENSP00000573636.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903577.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000951703.1",
"protein_id": "ENSP00000621762.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951703.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000951706.1",
"protein_id": "ENSP00000621765.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951706.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2302C>T",
"hgvs_p": "p.Arg768Cys",
"transcript": "ENST00000951707.1",
"protein_id": "ENSP00000621766.1",
"transcript_support_level": null,
"aa_start": 768,
"aa_end": null,
"aa_length": 787,
"cds_start": 2302,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951707.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.Arg767Cys",
"transcript": "ENST00000698808.1",
"protein_id": "ENSP00000513947.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 786,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698808.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2299C>T",
"hgvs_p": "p.Arg767Cys",
"transcript": "ENST00000951701.1",
"protein_id": "ENSP00000621760.1",
"transcript_support_level": null,
"aa_start": 767,
"aa_end": null,
"aa_length": 786,
"cds_start": 2299,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951701.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2296C>T",
"hgvs_p": "p.Arg766Cys",
"transcript": "ENST00000914417.1",
"protein_id": "ENSP00000584476.1",
"transcript_support_level": null,
"aa_start": 766,
"aa_end": null,
"aa_length": 785,
"cds_start": 2296,
"cds_end": null,
"cds_length": 2358,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914417.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2242C>T",
"hgvs_p": "p.Arg748Cys",
"transcript": "ENST00000903578.1",
"protein_id": "ENSP00000573637.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 767,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903578.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Cys",
"transcript": "ENST00000698778.1",
"protein_id": "ENSP00000513925.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 766,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698778.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2239C>T",
"hgvs_p": "p.Arg747Cys",
"transcript": "ENST00000903579.1",
"protein_id": "ENSP00000573638.1",
"transcript_support_level": null,
"aa_start": 747,
"aa_end": null,
"aa_length": 766,
"cds_start": 2239,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903579.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Arg737Cys",
"transcript": "ENST00000698809.1",
"protein_id": "ENSP00000513948.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 756,
"cds_start": 2209,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698809.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2194C>T",
"hgvs_p": "p.Arg732Cys",
"transcript": "ENST00000951705.1",
"protein_id": "ENSP00000621764.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 751,
"cds_start": 2194,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951705.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2146C>T",
"hgvs_p": "p.Arg716Cys",
"transcript": "ENST00000914413.1",
"protein_id": "ENSP00000584472.1",
"transcript_support_level": null,
"aa_start": 716,
"aa_end": null,
"aa_length": 735,
"cds_start": 2146,
"cds_end": null,
"cds_length": 2208,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914413.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2131C>T",
"hgvs_p": "p.Arg711Cys",
"transcript": "ENST00000951704.1",
"protein_id": "ENSP00000621763.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 730,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951704.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.2053C>T",
"hgvs_p": "p.Arg685Cys",
"transcript": "ENST00000914415.1",
"protein_id": "ENSP00000584474.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 704,
"cds_start": 2053,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000914415.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAT5B",
"gene_hgnc_id": 11367,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Cys",
"transcript": "ENST00000914414.1",
"protein_id": "ENSP00000584473.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 655,
"cds_start": 1906,
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"bayesdelnoaf_prediction": "Uncertain_significance",
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"phenotype_combined": "Growth hormone insensitivity with immune dysregulation 1, autosomal recessive",
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}
],
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}